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Birt-Hogg-Dube syndrome

Other Names for this Disease
  • BHD
  • BHD syndrome
  • Birt Hogg Dube syndrome
  • Fibrofolliculomas with trichodiscomas and acrochordons
  • Hornstein-Knickenberg syndrome
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Birt-Hogg-Dube syndrome is a rare complex disorder that affects the skin and lungs and increases the risk of certain types of tumors. The condition is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. Affected individuals are also predisposed to developing benign cysts in the lungs, pneumothorax, and cancerous or noncancerous tumors of the kidneys.[1][2]Birt Hogg Dube syndrome is caused by mutations in the FLCN gene. The condition is inherited in an autosomal dominant fashion.[1]
Last updated: 3/16/2010


  1. Birt-Hogg-Dubé syndrome. Genetics Home Reference (GHR). 2006; Accessed 11/16/2009.
  2. Schmidt LS. Birt-Hogg-Dube Syndrome. National Organization for Rare Disorders (NORD). 2007; Accessed 11/16/2009.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Birt-Hogg-Dube syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Birt-Hogg-Dube syndrome. Click on the link to view a sample search on this topic.